1. Gene
  2. AQP2 - aquaporin 2 Gene

AQP2 - aquaporin 2 Gene

Homo sapiens

Also known as NDI2; AQP-CD; WCH-CD

Gene ID: 359 | Gene type: protein coding

About AQP2

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,950,737-49,958,878 (from NCBI)

This gene has 3 transcripts (splice variants), 168 orthologues, 11 paralogues and is associated with 2 phenotypes. Restricted expression toward kidney (RPKM 245.3).

Summary

This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/Aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]

AQP2 Products(1)

mRNA Protein Name
NM_000486.6 NP_000477.1 aquaporin-2

AQP2 Protein Structure

MIP

MIP: Major intrinsic protein (3 - 219)

  • 0
  • 100
  • 200
  • 271 a.a.
Protein Preferred Names Protein Names

aquaporin-2

ADH water channel

Related Diseases

Diseases Alias
Diabetes Insipidus, Nephrogenic, 2, Autosomal

Diabetes Insipidus, Nephrogenic, Autosomal

NDI2

Diabetes Insipidus, Nephrogenic, Type Ii

Diabetes Insipidus, Nephrogenic, 2

Nephrogenic Diabetes Insipidus Type 2

Autosomal Nephrogenic Diabetes Insipidus-2

Diabetes Insipidus, Nephrogenic Type 2

ANDI

Diabetes Insipidus Nephrogenic Type 2

Doid:0081061

Nephrogenic Diabetes Insipidus

Congenital Nephrogenic Diabetes Insipidus

Adh-Resistant Diabetes Insipidus

Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus

Diabetes Insipidus, Nephrogenic

Diabetes Insipidus Nephrogenic

Congenital Nephrogenic Diabetes Insipidus

Adh Resistant Diabetes Insipidus

Diabetes Insipidus Nephrogenic X-Linked

Diabetes Insipidus Nephrogenic Type 1

Adh-Resistant Diabetes Insipidus

Diabetes Insipidus Renalis

Ndi

Renal Diabetes Insipidus

Familial Nephrogenic Diabetes

Antidiuretic-Hormone-Resistant Diabetes Insipidus

Adiuretin-Resistant Diabetes Insipidus

Ndi - [Nephrogenic Diabetes Insipidus]

Diabetes Tenuifluus

Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

Hereditary Nephrogenic Diabetes Insipidus

Familial Nephrogenic Diabetes Insipidus

Primary Nephrogenic Diabetes Insipidus

Diabetes Insipidus
Central Diabetes Insipidus

Neurogenic Diabetes Insipidus

Diabetes Insipidus Cranial Type

Diabetes Insipidus Neurogenic

Diabetes Insipidus Neurohypophyseal

Neurohypophyseal Diabetes Insipidus

Pituitary Diabetes Insipidus

Cdi

Doid:0081055

Diabetes Insipidus

Di - [Diabetes Insipidus]

Adh - [Antidiuretic Hormone Secretion] Deficiency

Diabetes Mellitus Insipidus

Familial Diabetes Insipidus

Antidiuretic Hormone Hyposecretion

Vasopressin Deficiency Syndrome

Primary Central Diabetes Insipidus

Vasopressin Deficiency

Vasopressin Hyposecretion

Diabetes Insipidus Secondary To Vasopressin Deficiency

Inappropriate Adh Syndrome

Syndrome Of Inappropriate Antidiuretic Hormone Secretion

Syndrome Of Inappropriate Secretion Of Antidiuretic Hormone

Siadh

Syndrome Of Inappropriate Vasopressin Secretion

Syndrome Of Inappropriate Secretion Of Adh

Inappropriate Secretion Of Antidiuretic Hormone

Syndrome Of Inappropriate Antidiuresis

Siadh - [Syndrome Of Inappropriate Secretion Of Antidiuretic Hormone]

Antidiuretic Hormone Syndrome

Hormone Secretion

Inadequate Antidiuretic Hormone Secretion Syndrome

Schwartz-Bartter Syndrome

Siad - [Syndrome Of Inappropriate Antidiuresis]

Hypersecretion Of Antidiuretic Hormone

Ureteral Obstruction
Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Hereditary Nephrogenic Diabetes Insipidus
Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

X-Linked Nephrogenic Diabetes Insipidus

Nephrogenic Diabetes Insipidus Type 1

Doid:0081060

Nephrogenic Syndrome Of Inappropriate Antidiuresis

NSIAD

Hepatorenal Syndrome

Hepato-Renal Syndrome

Hepatorenal Failure

Hrf - [Hepatorenal Failure]

Hepatorenal Degeneration

Hepatic Renal Syndrome

Hepatic Renal Failure

Renal Hepatic Failure

Urohepatic Syndrome

Liver Cirrhosis

Cirrhosis

Cirrhosis Of Liver

CIRRH

Cryptogenic Cirrhosis

Cirrhosis, Cryptogenic

Cirrhosis Nos

Metabolic Acidosis
Congestive Heart Failure

Congestive Heart Disease

Heart Failure

Cardiac Failure Congestive

Chf

Weak Heart

Heart Failure Congestive

Ccf - [Congestive Cardiac Failure]

Chf - [Congestive Heart Failure]

Congestive Cardiac Diseases

Congested Heart Failure

Congestive Cardiac Failure

Cardiac Anasarca

Cardiac Oedema

Cardiac Stasis

Cardiovascular Oedema

Cardiac Hydrops

Congestive Failure

Heart Congestion

Heart Fluid

Oedematous Heart

Central Pontine Myelinolysis

Myelinolysis, Central Pontine

Osmotic Demyelination Syndrome

Cpm

Myelinolysis Central Pontine

Central Pontine Myelinosis

Dipsogenic Diabetes Insipidus

Primary Polydipsia

Doid:0081058

Psychogenic Polydipsia

Bartter Syndrome, Type 5, Antenatal, Transient

Bartter Disease Type 5

BARTS5

Bartter Syndrome Type 5

Bartter Syndrome Type V

Transient Antenatal Bartter Syndrome

Bartter Syndrome 5, Antenatal, Transient

Diabetes Insipidus, Neurohypophyseal

Neurohypophyseal Diabetes Insipidus

Cdi

Pituitary Diabetes Insipidus

Vasopressin Defective Diabetes Insipidus

Vasopressin Deficiency

Central Diabetes Insipidus

Diabetes Insipidus, Neurogenic

Diabetes Insipidus, Primary Central

Diabetes Insipidus, Cranial Type

Diabetes Insipidus Secondary To Vasopressin Deficiency

Diabetes Insipidus, Central

Diabetes Insipidus, Pituitary

NDI

Diabetes Insipidus Cranial Type

Neurogenic Diabetes Insipidus

Primary Central Diabetes Insipidus

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Peripheral Vertigo

Vertigo, Peripheral

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

Gestational Diabetes Insipidus

Transient Diabetes Insipidus Of Pregnancy

Diabetes Insipidus Gestational

Gestagenic Diabetes Insipidus

Doid:0081057

Pyelonephritis
Pendred Syndrome

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness

Urinary Tract Obstruction

Obstructive Uropathy

Urinary Obstruction

Urologic Diseases

Ureteral Disease

Ureteral Diseases

Ureteral Disorders

Disorder Of Ureter

Bartter Disease

Bartter Syndrome

Bartter'S Syndrome

Aldosteronism With Hyperplasia Of The Adrenal Cortex

Hypokalemic Alkalosis With Hypercalciuria

Potassium Wasting

Juxtaglomerular Hyperplasia With Secondary Aldosteronism

Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

Salt-Losing Tubular Disorder, Henle'S Loop Type

Salt-Wasting Tubulopathy, Henle'S Loop Type

Bartters Syndrome

Meniere Disease

Meniere'S Disease

Otogenic Vertigo

Ménière Disease

Ménière'S Disease

Mnire'S Vertigo

Auditory Vertigo

Aural Vertigo

Meniere'S Syndrome

Ménière'S Vertigo

Primary Endolymphatic Hydrops

Menieres Disease

Vertigo, Aural

Labyrinth Hydrops

Labyrinthine Hydrops

Labyrinthine Vertigo

Ménière Syndrome

Ménière Vertigo

Idiopathic Endolymphatic Hydrops

Vestibular Disease

Vestibular Diseases

Vertigo, Vestibular Disorder

Vestibular Disorder

Diseases Of Inner Ear

Kidney Papillary Necrosis

Necrotizing Renal Papillitis

Papillary Necrosis

Renal Papillitis Necrotizing

Renal Glucosuria

Renal Glycosuria

Familial Renal Glucosuria

GLYS

Glys1

Glycosuria, Renal

Glucosuria, Renal

Renal Diabetes

Familial Renal Glycosuria

Sglt2 Deficiency

Gly

Diabetes Renal

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Bartter Syndrome, Type 1, Antenatal

Hyperprostaglandin E Syndrome 1

Bartter Disease Type 1

BARTS1

Bartter Syndrome, Type 1

Bartter Syndrome Type 1

Hypokalemic Alkalosis With Hypercalciuria Antenatal 1

Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal

Bartter Syndrome Type 1 Antenatal

Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal

Bartter Syndrome Antenatal Type 1

Antenatal Bartter Syndrome Type 1

Bartter Syndrome Type I

Bartter Syndrome 1, Antenatal

Abs1

Antenatal Bartter Syndrome 1

Bs1

Bartter Syndrome, Antenatal Type 1

Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis

Renal Tubular Acidosis

Acidosis Renal Tubular

Acidosis, Renal Tubular

Lightwood-Albright Syndrome

Lightwood Syndrome

Idiopathic Infantile Hypercalcemia - Mild Form

Kidney Tubular Acidosis

Renal Tubule Acidosis

Kidney Acidosis

Renal Acidosis

Renal Hyperchloremic Acidosis

Rta - [Renal Tubular Acidosis]

Gitelman Syndrome

Familial Hypokalemia-Hypomagnesemia

Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria

Potassium And Magnesium Depletion

GTLMNS

Gitelman'S Syndrome

Gs

Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria

Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria

Bartter Syndrome Gitelman Variant

Bartter Syndrome Hypocalciuric Variant

Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Congenital Anomalies Of Kidney And Urinary Tract 2

CAKUT2

Ureteropelvic Junction Obstruction

Multicystic Renal Dysplasia, Bilateral

Pelviureteric Junction Obstruction

Pujo

Hydronephrosis Due To Pujo

Upjo

Mcrd

Congenital Anomalies Of The Kidney And Urinary Tract 2

Mrd

Pelvi-Ureteric Junction Obstruction

Kidney And Urinary Tract, Anomalies, Congenital, Type 2

Obstruction Of Pelviureteric Junction

Obstructive Nephropathy

Con

Congenital Obstructive Nephropathy

Nephropathy Obstructive

Liddle Syndrome 1

Liddle Syndrome

Pseudoaldosteronism

Liddle'S Syndrome

LIDLS1

Lidls

Pseudohyperaldosteronism

Pseudoprimary Hyperaldosteronism

Pseudohyperaldosteronism Type 1

Liddles Syndrome

Sleeping Sickness

African Trypanosomiasis

African Sleeping Sickness

Trypanosomiasis, Human East-African

Trypanosomiasis, East African

Trypanosomiasis African

Trypanosomiasis, African

Human African Trypanosomiasis

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus AQP2 VGNC VGNC:26046
Felis catus AQP2 VGNC VGNC:83495
Mus musculus AQP2 MGD MGI:1096865
Macaca mulatta AQP2 VGNC VGNC:99888
Canis familiaris AQP2 VGNC VGNC:38017
Rattus norvegicus AQP2 RGD RGD:2142
Others AQP2 NCBI